FRUCT
MCID: FRC005
MIFTS: 28

Fructosuria, Essential (FRUCT)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Fructosuria, Essential

MalaCards integrated aliases for Fructosuria, Essential:

Name: Fructosuria, Essential 56 29 6 39
Ketohexokinase Deficiency 56 52 58
Fructosuria 56 74 73
Hepatic Fructokinase Deficiency 56 52
Fructokinase Deficiency 52 58
Essential Fructosuria 52 58
Essential Benign Fructosuria 52
Deficiency of Fructokinase 71
Fruct 73

Characteristics:

Orphanet epidemiological data:

58
essential fructosuria
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
benign, asymptomatic defect


HPO:

31
fructosuria, essential:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM 56 229800
MESH via Orphanet 44 C538068
ICD10 via Orphanet 33 E74.1
UMLS via Orphanet 72 C0268160
Orphanet 58 ORPHA2056
MedGen 41 C0268160
SNOMED-CT via HPO 68 258211005
UMLS 71 C0268160

Summaries for Fructosuria, Essential

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2056 Definition Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated. Visit the Orphanet disease page for more resources.

MalaCards based summary : Fructosuria, Essential, also known as ketohexokinase deficiency, is related to fructose intolerance, hereditary and pentosuria. An important gene associated with Fructosuria, Essential is KHK (Ketohexokinase). Affiliated tissues include liver, and related phenotype is impairment of fructose metabolism.

OMIM : 56 Essential fructosuria is a benign, asymptomatic defect of intermediary metabolism characterized by the intermittent appearance of fructose in the urine (summary by Bonthron et al., 1994). (229800)

UniProtKB/Swiss-Prot : 73 Fructosuria: Benign defect of intermediary metabolism.

Wikipedia : 74 Essential fructosuria, caused by a deficiency of the enzyme hepatic fructokinase, is a clinically benign... more...

Related Diseases for Fructosuria, Essential

Diseases related to Fructosuria, Essential via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 fructose intolerance, hereditary 10.4
2 pentosuria 10.3
3 fatty liver disease, nonalcoholic 1 10.1
4 cholecystitis 10.1
5 hepatitis 10.1
6 glycogen storage disease 10.1
7 pulmonary tuberculosis 10.1
8 carbohydrate metabolic disorder 10.1
9 lipid metabolism disorder 10.1
10 pyoderma 10.1
11 liver cirrhosis 10.1
12 connective tissue disease 10.1
13 inherited metabolic disorder 10.1
14 hypoglycemia 10.1

Graphical network of the top 20 diseases related to Fructosuria, Essential:



Diseases related to Fructosuria, Essential

Symptoms & Phenotypes for Fructosuria, Essential

Human phenotypes related to Fructosuria, Essential:

31
# Description HPO Frequency HPO Source Accession
1 impairment of fructose metabolism 31 HP:0011033

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
fructosuria

Clinical features from OMIM:

229800

Drugs & Therapeutics for Fructosuria, Essential

Search Clinical Trials , NIH Clinical Center for Fructosuria, Essential

Genetic Tests for Fructosuria, Essential

Genetic tests related to Fructosuria, Essential:

# Genetic test Affiliating Genes
1 Fructosuria, Essential 29 KHK

Anatomical Context for Fructosuria, Essential

MalaCards organs/tissues related to Fructosuria, Essential:

40
Liver

Publications for Fructosuria, Essential

Articles related to Fructosuria, Essential:

# Title Authors PMID Year
1
Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase). 56 6
7833921 1994
2
Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by 31P magnetic resonance spectroscopy. 56
7816517 1994
3
The diagnosis of hereditary fructose intolerance. 56
6268573 1981
4
NONALIMENTARY FRUCTOSURIA. 56
14063525 1963
5
Essential benign fructosuria. 56
13759156 1961
6
Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria. 61
12941785 2003

Variations for Fructosuria, Essential

ClinVar genetic disease variations for Fructosuria, Essential:

6 (show all 49) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KHK NM_006488.3(KHK):c.118G>A (p.Gly40Arg)SNV Affects 12031 rs104893643 2:27315225-27315225 2:27092357-27092357
2 KHK NM_006488.3(KHK):c.127G>A (p.Ala43Thr)SNV Affects 12032 rs104893644 2:27315234-27315234 2:27092366-27092366
3 KHK NM_006488.3(KHK):c.790G>A (p.Val264Ile)SNV Conflicting interpretations of pathogenicity 335497 rs114353144 2:27322424-27322424 2:27099556-27099556
4 KHK NM_006488.3(KHK):c.*159G>ASNV Uncertain significance 335506 rs886055892 2:27322777-27322777 2:27099909-27099909
5 KHK NM_006488.3(KHK):c.818G>A (p.Ser273Asn)SNV Uncertain significance 335498 rs575951862 2:27322539-27322539 2:27099671-27099671
6 KHK NM_006488.3(KHK):c.*49C>TSNV Uncertain significance 335503 rs776688675 2:27322667-27322667 2:27099799-27099799
7 KHK NM_006488.3(KHK):c.210-211C>TSNV Uncertain significance 335488 rs141417422 2:27317457-27317457 2:27094589-27094589
8 KHK NM_006488.3(KHK):c.463G>A (p.Ala155Thr)SNV Uncertain significance 335489 rs776211460 2:27320416-27320416 2:27097548-27097548
9 KHK NM_006488.3(KHK):c.680_682AGG[1] (p.Glu228del)short repeat Uncertain significance 335496 rs745546639 2:27322313-27322315 2:27099445-27099447
10 KHK NM_006488.3(KHK):c.820G>A (p.Val274Met)SNV Uncertain significance 335499 rs138164728 2:27322541-27322541 2:27099673-27099673
11 KHK NM_006488.3(KHK):c.-379T>ASNV Uncertain significance 335476 rs886055883 2:27309749-27309749 2:27086881-27086881
12 KHK NM_006488.3(KHK):c.*791G>ASNV Uncertain significance 335516 rs886055894 2:27323409-27323409 2:27100541-27100541
13 KHK NM_006488.3(KHK):c.210-245C>GSNV Uncertain significance 335487 rs202153228 2:27317423-27317423 2:27094555-27094555
14 KHK NM_006488.3(KHK):c.527G>A (p.Arg176Gln)SNV Uncertain significance 335493 rs143669793 2:27320480-27320480 2:27097612-27097612
15 KHK NM_006488.3(KHK):c.-15T>GSNV Uncertain significance 335481 rs763655731 2:27310113-27310113 2:27087245-27087245
16 KHK NM_006488.3(KHK):c.473C>A (p.Thr158Asn)SNV Uncertain significance 335490 rs773003580 2:27320426-27320426 2:27097558-27097558
17 KHK NM_006488.3(KHK):c.499C>T (p.Arg167Trp)SNV Uncertain significance 335491 rs886055887 2:27320452-27320452 2:27097584-27097584
18 KHK NM_006488.3(KHK):c.500G>A (p.Arg167Gln)SNV Uncertain significance 335492 rs201707861 2:27320453-27320453 2:27097585-27097585
19 KHK NM_006488.3(KHK):c.557G>A (p.Gly186Glu)SNV Uncertain significance 335494 rs886055888 2:27320510-27320510 2:27097642-27097642
20 KHK NM_006488.3(KHK):c.643G>C (p.Val215Leu)SNV Uncertain significance 335495 rs886055889 2:27322142-27322142 2:27099274-27099274
21 KHK NM_006488.3(KHK):c.*27A>GSNV Uncertain significance 335501 rs189674797 2:27322645-27322645 2:27099777-27099777
22 KHK NM_006488.3(KHK):c.*28T>CSNV Uncertain significance 335502 rs745543858 2:27322646-27322646 2:27099778-27099778
23 KHK NM_006488.3(KHK):c.*198A>CSNV Uncertain significance 335507 rs886055893 2:27322816-27322816 2:27099948-27099948
24 KHK NM_006488.3(KHK):c.*469G>ASNV Uncertain significance 335510 rs187387157 2:27323087-27323087 2:27100219-27100219
25 KHK NM_006488.3(KHK):c.*505G>ASNV Uncertain significance 335511 rs78939351 2:27323123-27323123 2:27100255-27100255
26 KHK NM_006488.3(KHK):c.*810A>CSNV Uncertain significance 335518 rs543665606 2:27323428-27323428 2:27100560-27100560
27 KHK NM_006488.3(KHK):c.-245G>ASNV Uncertain significance 335478 rs192615638 2:27309883-27309883 2:27087015-27087015
28 KHK NM_006488.3(KHK):c.-140G>ASNV Uncertain significance 335479 rs886055884 2:27309988-27309988 2:27087120-27087120
29 KHK NM_006488.3(KHK):c.159C>T (p.Leu53=)SNV Uncertain significance 335483 rs112920456 2:27315266-27315266 2:27092398-27092398
30 KHK NM_006488.3(KHK):c.210-334C>TSNV Uncertain significance 335484 rs368871098 2:27317334-27317334 2:27094466-27094466
31 KHK NM_006488.3(KHK):c.210-283C>TSNV Uncertain significance 335486 rs886055886 2:27317385-27317385 2:27094517-27094517
32 KHK NM_006488.3(KHK):c.*52C>TSNV Uncertain significance 335504 rs747976594 2:27322670-27322670 2:27099802-27099802
33 KHK NM_006488.3(KHK):c.*200A>GSNV Uncertain significance 335508 rs751205514 2:27322818-27322818 2:27099950-27099950
34 KHK NM_006488.3(KHK):c.*326G>ASNV Uncertain significance 335509 rs148558475 2:27322944-27322944 2:27100076-27100076
35 KHK NM_006488.3(KHK):c.-97G>ASNV Uncertain significance 335480 rs886055885 2:27310031-27310031 2:27087163-27087163
36 KHK NM_006488.3(KHK):c.210-328A>GSNV Likely benign 335485 rs74537742 2:27317340-27317340 2:27094472-27094472
37 KHK NM_006488.3(KHK):c.*1009T>GSNV Likely benign 369340 rs78413769 2:27323627-27323627 2:27100759-27100759
38 KHK NM_006488.3(KHK):c.*540G>CSNV Likely benign 335512 rs60769101 2:27323158-27323158 2:27100290-27100290
39 KHK NM_006488.3(KHK):c.-444C>ASNV Likely benign 335475 rs116365550 2:27309684-27309684 2:27086816-27086816
40 KHK NM_006488.3(KHK):c.*20_*21AC[2]short repeat Likely benign 335500 rs370253620 2:27322637-27322638 2:27099769-27099770
41 KHK NM_006488.3(KHK):c.-324C>TSNV Likely benign 335477 rs114973335 2:27309804-27309804 2:27086936-27086936
42 KHK NM_006488.3(KHK):c.-449T>GSNV Likely benign 335474 rs116028777 2:27309679-27309679 2:27086811-27086811
43 KHK NM_006488.3(KHK):c.*580T>CSNV Likely benign 335513 rs7573066 2:27323198-27323198 2:27100330-27100330
44 KHK NM_006488.3(KHK):c.*754T>CSNV Likely benign 335514 rs73921452 2:27323372-27323372 2:27100504-27100504
45 KHK NM_006488.3(KHK):c.*79G>ASNV Likely benign 335505 rs75067630 2:27322697-27322697 2:27099829-27099829
46 KHK NM_006488.3(KHK):c.*806G>ASNV Likely benign 335517 rs113859516 2:27323424-27323424 2:27100556-27100556
47 KHK NM_006488.3(KHK):c.*767C>TSNV Benign 335515 rs1131375 2:27323385-27323385 2:27100517-27100517
48 KHK NM_006488.3(KHK):c.-469A>CSNV Benign 335473 rs6742004 2:27309659-27309659 2:27086791-27086791
49 KHK NM_006488.3(KHK):c.145G>A (p.Val49Ile)SNV Benign 335482 rs2304681 2:27315252-27315252 2:27092384-27092384

UniProtKB/Swiss-Prot genetic disease variations for Fructosuria, Essential:

73
# Symbol AA change Variation ID SNP ID
1 KHK p.Gly40Arg VAR_006072 rs104893643
2 KHK p.Ala43Thr VAR_006073 rs104893644

Expression for Fructosuria, Essential

Search GEO for disease gene expression data for Fructosuria, Essential.

Pathways for Fructosuria, Essential

GO Terms for Fructosuria, Essential

Sources for Fructosuria, Essential

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